Seminar by Rajiv McCoy
We're delighted to advertise that Rajiv McCoy will be visiting Copenhagen in a few weeks and has offered to give a talk on his work. Rajiv leads a lab at the Department of Biology at Johns Hopkins University, and his work is on the evolution of the human genome, at different time scales.
Rajiv’s talk will be at the Kommunehospital, room 7.146, from 11-12 on Thursday 10th August.
Human genome evolution within and across generations
by Rajiv McCoy, Johns Hopkins University
Genetic variation at the level of DNA sequence mediates much of the phenotypic diversity that exists in nature, both within and between species, including humans. Over recent years, the widespread application of DNA sequencing and related functional genomic assays has produced a wealth of data that allow us to test long-standing hypotheses about how evolution shapes somatic and germline variation and ensuing phenotypes. The scale and complexity of these data in turn require the development of novel computational and statistical methods tailored for their analysis.
Showcasing these themes, I will describe recent areas of focus in my lab that span scales of biological organization. The first regards one of the most surprising features of human biology, whereby less than half of all conceptions survive to live birth, largely due to errors in gamete formation and early embryonic cell divisions. Leveraging data from preimplantation genetic testing, our lab is revealing evidence of diverse mechanisms of aneuploidy formation and quantifying their relative contributions to pregnancy loss, with implications for fundamental understanding of human development as well as the potential improvement of clinical genetic tests. Extending from cells to individuals to populations, my lab is developing resources and methods for studying abundant and impactful classes of genetic variation that have eluded the field due to technical challenges of sequencing, mapping, and assembly. This research has uncovered new evidence of historical natural selection, including selection favoring alleles inherited via ancient interbreeding with Neanderthals.
Importantly, much of the phenotypic variation in nature traces not to differences in amino acid sequences, but to regulatory variation influencing transcription levels and splicing of RNA. I will end the talk by describing our ongoing work generating and analyzing a large gene expression dataset from globally diverse human individuals, toward a more complete view of the mechanisms driving gene expression diversity and evolution. Together, our research helps explain the origins and maintenance of genetic variation underlying the phenotypes that make us unique as species and individuals.
Brief Bio:
Rajiv McCoy is an assistant professor in the Department of Biology at Johns Hopkins University. He received his Ph.D. from Stanford University and completed his postdoctoral work at Princeton University and the University of Washington. His lab (https://mccoy-lab.org) develops and applies computational and statistical methods to understand the evolution and function of the human genome. This work includes investigation of the molecular origins and fitness consequences of aneuploidy, as well as the evolutionary forces that shape variation in genome function across diverse human populations. Rajiv is a co-organizer of the Origins of Aneuploidy Research Consortium, as well as a member of the Telomere-to-Telomere Consortium, contributing to analysis of the first gapless assembly of a complete human genome. The McCoy lab is funded by a R35 Outstanding Investigator Award from the US National Institutes of Health.